Variant information



Systematic Name c.[398G>T(;)602C>T]
Protein name p.[Arg133Leu(;)Ala201Val]
Mutation type missense
Domain MBD, inter-domain region
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[398G>T(;)602C>T] p.[Arg133Leu(;)Ala201Val] missense MBD, inter-domain region Unknown Female Rett syndrome-Classical 4250